NDLI: A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons

Content Provider	PubMed Central
Author	Dubreuil, Véronique Ramanantsoa, Nélina Trochet, Delphine Vanessa, Vaubourg Amiel, Jeanne Gallego, Jorge Brunet, Jean-françois Christo, Goridis
Copyright Year	2008
Abstract	Breathing is maintained and controlled by a network of neurons in the brainstem that generate respiratory rhythm and provide regulatory input. Central chemoreception, the mechanism for CO2 detection that provides an essential stimulatory input, is thought to involve neurons located near the medullary surface, whose nature is controversial. Good candidates are serotonergic medullary neurons and glutamatergic neurons in the parafacial region. Here, we show that mice bearing a mutation in Phox2b that causes congenital central hypoventilation syndrome in humans breathe irregularly, do not respond to an increase in CO2, and die soon after birth from central apnea. They specifically lack Phox2b-expressing glutamatergic neurons located in the parafacial region, whereas other sites known or supposed to be involved in the control of breathing are anatomically normal. These data provide genetic evidence for the essential role of a specific population of medullary interneurons in driving proper breathing at birth and will be instrumental in understanding the etiopathology of congenital central hypoventilation syndrome.
Related Links	http://dx.doi.org/10.1073/pnas.0709115105
Ending Page	1072
Page Count	6
Starting Page	1067
File Format	PDF
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	3
Volume Number	105
Language	English
Publisher	National Academy of Sciences
Publisher Date	2008-01-22
Access Restriction	Open
Rights Holder	National Academy of Sciences
Subject Keyword	General Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Phox2b-expressing neurons of the parafacial region regulate breathing rate, inspiration and expiration in conscious rats

Decreased Cortical Thickness in Central Hypoventilation Syndrome

Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2

Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities

A Case of Congenital Central Hypoventilation Syndrome with a Novel Mutation of the PHOX2B Gene Presenting as Central Sleep Apnea

Postsynaptic mechanisms of CO2 responses in parafacial respiratory neurons of newborn rats

NRAS mutation causes a human autoimmune lymphoproliferative syndrome

Loss-of-function mutation in GATA4 causes anomalies of human testicular development

Heterozygosity for a Bub1 mutation causes female-specific germ cell aneuploidy in mice

A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons

Similar Documents

Phox2b-expressing neurons of the parafacial region regulate breathing rate, inspiration and expiration in conscious rats

Decreased Cortical Thickness in Central Hypoventilation Syndrome

Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2

Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities

A Case of Congenital Central Hypoventilation Syndrome with a Novel Mutation of the PHOX2B Gene Presenting as Central Sleep Apnea

Postsynaptic mechanisms of CO2 responses in parafacial respiratory neurons of newborn rats

NRAS mutation causes a human autoimmune lymphoproliferative syndrome

Loss-of-function mutation in GATA4 causes anomalies of human testicular development

Heterozygosity for a Bub1 mutation causes female-specific germ cell aneuploidy in mice

A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons